G43E (p.Gly43Glu) variant of CYP2E1 (Cytochrome P450 2E1)
G43E (p.Gly43Glu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G43E (p.Gly43Glu) variant details
- p.Gly43Glu
- gnomAD 10-133527523-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.56
- MetaLR 0.73
- MetaSVM 0.72
- CADD 24.20
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available